CHARLOTTE, N.C. (WBTV) - I don’t like the term “rare” disease. I use it and write it because it’s what doctors often say – “a rare disease” – but in reality, it feels like there are way too many “rare” diseases out there and to identify each as an individual thing, despite great similarities to other illnesses, ends up making it harder to get attention. Or, money. Or, research. Harder to get focus on one specific exact type. Like by saying “rare,” we’re almost accidentally creating distance.
Does that make sense? Hope so.
Maybe I’m nuts. I certainly don’t profess to be an expert and welcome any criticism on why I’m wrong. I just hear from so many parents who want to talk about a specific “rare” disease, and then the next day talk with another parent who has a child fighting something similar, also classified as “rare.” I often wonder, if all these families networked together in larger groups, would they get more attention? And be able to help each other?
Last year, Taylor Shanks’ family had this same thought.
But they didn't just think it... they took action by hosting the First World Rare Disease Day Rally in Charlotte. This month, they’re doing it again.
Taylor lives in Charlotte with PURA Syndrome. She’s 1-of-350 individuals worldwide with a known case. Her mother, Amanda Shanks, says it causes intellectual disabilities and motor delays.
Amanda said the message of this year’s Rare Disease Day is this “Rare is many, rare is strong, and rare is proud!”
“This message re-frames the fact that ‘rare’ is not ‘rare,’” she said. “One in 10 individuals will be diagnosed with a rare disease in their lifetime.”
She went on.
“Despite many social advances made in the last several decades, ‘different’ is often still associated with ‘defect,’ and as a result, there’s a tendency to under-appreciate, underestimate, and devalue the lives of those with disabilities," she said. "One only needs to meet one ‘rare’ kiddo to realize how special and gifted they are.”
You are invited to the rally next Saturday. Kids are invited. Everyone is welcome. It’s free, and will be this Saturday, Feb. 22, from 9:30 a.m. - 11:30 a.m. at Trinity Presbyterian Church of Charlotte on Providence Road.
For more information – or to register (organizers ask you to please do so) go here.
As for Taylor, she's doing well.
“Overall, Taylor’s health and development have been flourishing,” Amanda said. “She is SO close to standing and walking independently but that does not stop her from navigating her environment by crawling, cruising, and walking (running) in her walker. She’s four-years-old now and using sign language!”
*Editor’s note: This is about one of #MollysKids, children WBTV Anchor Molly Grantham follows closely on her Facebook page. It was first published there, which is why it’s written in a personal way. For years Molly has followed hundreds of kids with uphill medical battles. Find this story and updates on all #MollysKids here.